Polymerase chain reaction-based search for two alpha-globin gene mutations in India.
We have used restriction site-dependent polymerase chain reaction (PCR)-based methodology for detection of the alpha-globin polyadenylation (poly A) signal mutation, AATAAA>AATA- - and Hb Sun Prairie [alpha 130(H13)Ala-->Pro, GCT>CCT (alpha2)] mutation. The former mutation produces Hb H disease in the homozygous state and occurs frequently in the Indian population. It was detected in nine of 77 putative alpha-thalassemia (alpha-thal) patients and in three of 13 beta-thal intermedia patients tested. Four of the nine alpha-thal patients were homozygotes for the mutation. The Hb Sun Prairie mutation was confirmed in two alpha-thal patients, one of whom was a homozygote and the other a heterozygote.
Bhattacharya
Gargi
G
Department of Bio-Physics, Molecular Biology & Genetics, University of Calcutta, Kolkata, India.
Sarkar
Anjali A
AA
Banerjee
Debasish
D
Chandra
Sarmila
S
Das
Manikanchan
M
Dasgupta
Uma B
UB
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007194:India; D007223:Infant; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C067961:hemoglobin Sun Prairie